Canonical Allele Identifier: CA2221608948
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50109040T= , CM000678.2:g.50109040T= GRCh38
NC_000016.9:g.50142951T= , CM000678.1:g.50142951T= GRCh37
NC_000016.8:g.48700452T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011523490.1:c.115-2388A= XP_011521792.1:n.115-2388A=